论文部分内容阅读
目前针对共济失调毛细血管扩张症的致病基因ATM基因的研究不断增多,该基因位于人类染色体的11q22～23,主要参与DNA损伤识别和修复,参与多个复杂的细胞周期关卡G1/S,S和G2/M,通过相应的信号转导途径,介导特定的分子间相互作用激活或抑制相应的细胞因子,起到调节细胞周期的作用。自从Swift等第一次报道了ATM杂合子患乳腺癌的风险增加后,作为乳腺癌危险因子ATM基因受到国内外学者的关注。本文将对ATM基因的作用机制以及乳腺癌中存在的ATM突变种系简要概述。
At present, there are more and more studies on the ATM gene of ataxia telangiectasia. The gene is located on human chromosome 11q22 ~ 23, which is mainly involved in DNA damage identification and repair, participating in multiple complex cell cycle checkpoints G1 / S, S and G2 / M, through the corresponding signal transduction pathway, mediate the specific intermolecular interaction to activate or inhibit the corresponding cytokines, play a role in regulating the cell cycle. Since Swift et al. First reported the increased risk of ATM heterozygote breast cancer, ATM gene as a risk factor for breast cancer has drawn the attention of scholars at home and abroad. This article will outline the mechanism of action of ATM genes and the presence of ATM mutations in breast cancer.